Version: 8.0.0
Date: Tue Jan 28 2025
hereditary spastic paraplegia 86
DOID:0112342
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hereditary spastic paraplegia 86

Definition
A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.
Synonyms
  • spastic paraplegia 86 autosomal recessive
  • SPG86
Cross References
Parent Terms
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None
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